HUMAN:ACTC

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	ACTC1 (synonyms: ACTC)
Protein Name(s)	Actin, alpha cardiac muscle 1 Alpha-cardiac actin
External Links
UniProt	P68032
EMBL	J00073 J00070 J00071 J00072 CR541795 BC009978
CCDS	CCDS10041.1
PIR	A02998
RefSeq	NP_005150.1
UniGene	Hs.118127
ProteinModelPortal	P68032
SMR	P68032
BioGrid	106585
IntAct	P68032
MINT	MINT-1425728
STRING	9606.ENSP00000290378
PhosphoSite	P68032
DMDM	54036697
REPRODUCTION-2DPAGE	P68032
MaxQB	P68032
PaxDb	P68032
PRIDE	P68032
DNASU	70
Ensembl	ENST00000290378
GeneID	70
KEGG	hsa:70
UCSC	uc001ziu.1
CTD	70
GeneCards	GC15M035080
GeneReviews	ACTC1
HGNC	HGNC:143
HPA	CAB037330 HPA041271
MIM	102540 612098 612794 613424
neXtProt	NX_P68032
Orphanet	99103 154 155 54260
PharmGKB	PA162375571
eggNOG	COG5277
GeneTree	ENSGT00760000118957
HOGENOM	HOG000233340
HOVERGEN	HBG003771
InParanoid	P68032
KO	K12314
OMA	QMITIGA
OrthoDB	EOG72RMZ1
PhylomeDB	P68032
TreeFam	TF354237
Reactome	REACT_16969
SignaLink	P68032
GeneWiki	ACTC1
GenomeRNAi	70
NextBio	275
PRO	PR:P68032
Proteomes	UP000005640
Bgee	P68032
CleanEx	HS_ACTC1
ExpressionAtlas	P68032
Genevestigator	P68032
GO	GO:0005884 GO:0042643 GO:0072562 GO:0005737 GO:0005829 GO:0005615 GO:0070062 GO:0005925 GO:0031674 GO:0016020 GO:0030017 GO:0005524 GO:0016887 GO:0017022 GO:0030048 GO:0033275 GO:0031032 GO:0006915 GO:0006200 GO:0060048 GO:0055008 GO:0055003 GO:0060047 GO:0030049 GO:0043066 GO:0042493 GO:0045471 GO:0030240
InterPro	IPR004000 IPR020902 IPR004001
PANTHER	PTHR11937
Pfam	PF00022
PRINTS	PR00190
SMART	SM00268
PROSITE	PS00406 PS00432 PS01132

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0005737	cytoplasm	PMID:20962418^[1]	ECO:0000314			C		Fig. 1E Expression of the ACTC1 gene in the cardiac tissues determined by immunohistochemistry, showed staining was mainly restricted in the cytoplasm.	complete
	GO:0010659	cardiac muscle cell apoptosis	PMID:20962418^[1]	ECO:0000314			P		Fig. 2B TUNEL-positive (apoptotic) cardiomyocytes were detected in the patients sample with down-regulated ACTC1.	complete
	GO:0010665	regulation of cardiac muscle cell apoptosis	PMID:20962418^[1]	ECO:0000314			P		Fig. 2D High relative proportions of TUNEL-positive (apoptotic) cardiomyocytes were detected in the patients sample with down-regulated ACTC1, when compared with normal ACTC1 expression group and the control group.	complete
	GO:0010468	regulation of gene expression	PMID:20962418^[1]	ECO:0000314			P		Fig 2F showing relative Caspase-3 mRNA expression increased significantly in the patients sample with down-regulated ACTC1; and Fig 2G showing relative Bcl-2 mRNA expression decreased significantly in the patients sample with down-regulated ACTC1.	complete
	GO:0010667	negative regulation of cardiac muscle cell apoptosis	PMID:20962418^[1]	ECO:0000315			P		Fig 4A and 4B showing the significant increase in percentage of apoptotic cells induced by ACTC1-siRNA in comparison to negative control.	complete
involved_in	GO:0090131	mesenchyme migration	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P08023	P		Seeded From UniProt	complete
involved_in	GO:0010628	positive regulation of gene expression	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P08023	P	has_regulation_target:(UniProtKB:E1C3A6)	Seeded From UniProt	complete
part_of	GO:0044297	cell body	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P08023	C	part_of:(CL:0000134)	Seeded From UniProt	complete
part_of	GO:0030175	filopodium	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P08023	C	part_of:(CL:0000134)	Seeded From UniProt	complete
part_of	GO:0030027	lamellipodium	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P08023	C	part_of:(CL:0000134)	Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:23533145^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005925	focal adhesion	PMID:21423176^[3]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(CL:0000057)	Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:19946888^[4]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0072562	blood microparticle	PMID:22516433^[5]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:23580065^[6]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001827)	Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:22664934^[7]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001827)	Seeded From UniProt	complete
involved_in	GO:0033275	actin-myosin filament sliding	PMID:19799913^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0017022	myosin binding	PMID:19799913^[8]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005884	actin filament	PMID:19799913^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:20962418^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:21362503^[9]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(CL:0002367)	Seeded From UniProt	complete
involved_in	GO:0060047	heart contraction	PMID:17947298^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060047	heart contraction	PMID:17611253^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060047	heart contraction	PMID:9563954^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0055008	cardiac muscle tissue morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P68033	P		Seeded From UniProt	complete
involved_in	GO:0055003	cardiac myofibril assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P68033	P		Seeded From UniProt	complete
part_of	GO:0042643	actomyosin, actin portion	PMID:16611632^[13]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0031674	I band	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P68033	C		Seeded From UniProt	complete
involved_in	GO:0031032	actomyosin structure organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P68033	P		Seeded From UniProt	complete
involved_in	GO:0030240	skeletal muscle thin filament assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P68033	P		Seeded From UniProt	complete
involved_in	GO:0030048	actin filament-based movement	PMID:16611632^[13]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0030017	sarcomere	PMID:16288873^[14]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0017022	myosin binding	PMID:16611632^[13]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:O62854	F		Seeded From UniProt	complete
enables	GO:0016887	ATPase activity	PMID:16611632^[13]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0016887	ATPase activity	PMID:17765196^[15]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005884	actin filament	PMID:16611632^[13]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	PMID:16611632^[13]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0098978	glutamatergic synapse	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68033 ensembl:ENSMUSP00000087736	C		Seeded From UniProt	complete
involved_in	GO:0070252	actin-mediated cell contraction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68033 ensembl:ENSMUSP00000087736	P		Seeded From UniProt	complete
involved_in	GO:0055008	cardiac muscle tissue morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68033 ensembl:ENSMUSP00000087736	P		Seeded From UniProt	complete
involved_in	GO:0055003	cardiac myofibril assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68033 ensembl:ENSMUSP00000087736	P		Seeded From UniProt	complete
part_of	GO:0045202	synapse	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68033 ensembl:ENSMUSP00000087736	C		Seeded From UniProt	complete
involved_in	GO:0043066	negative regulation of apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68033 ensembl:ENSMUSP00000087736	P		Seeded From UniProt	complete
part_of	GO:0031674	I band	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68033 ensembl:ENSMUSP00000087736	C		Seeded From UniProt	complete
involved_in	GO:0031032	actomyosin structure organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68033 ensembl:ENSMUSP00000087736	P		Seeded From UniProt	complete
involved_in	GO:0030240	skeletal muscle thin filament assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68033 ensembl:ENSMUSP00000087736	P		Seeded From UniProt	complete
involved_in	GO:0060048	cardiac muscle contraction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68035 ensembl:ENSRNOP00000011773	P		Seeded From UniProt	complete
involved_in	GO:0045471	response to ethanol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68035 ensembl:ENSRNOP00000011773	P		Seeded From UniProt	complete
involved_in	GO:0042493	response to drug	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P68035 ensembl:ENSRNOP00000011773	P		Seeded From UniProt	complete
involved_in	GO:0030049	muscle filament sliding	Reactome:R-HSA-390522	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-390598 Reactome:R-HSA-390597 Reactome:R-HSA-390595 Reactome:R-HSA-390593	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206 UniProtKB-SubCell:SL-0090	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Jiang, HK et al. (2010) Reduced ACTC1 expression might play a role in the onset of congenital heart disease by inducing cardiomyocyte apoptosis. Circ. J. 74 2410-8 PubMed GONUTS page
↑ Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page
↑ Kuo, JC et al. (2011) Analysis of the myosin-II-responsive focal adhesion proteome reveals a role for β-Pix in negative regulation of focal adhesion maturation. Nat. Cell Biol. 13 383-93 PubMed GONUTS page
↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
↑ Bastos-Amador, P et al. (2012) Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability. J Proteomics 75 3574-84 PubMed GONUTS page
↑ Pieragostino, D et al. (2013) Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy. Mol Biosyst 9 1108-16 PubMed GONUTS page
↑ Böhm, D et al. (2012) Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. Oncol. Rep. 28 429-38 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 Debold, EP et al. (2010) Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. J. Mol. Cell. Cardiol. 48 286-92 PubMed GONUTS page
↑ Stamer, WD et al. (2011) Protein profile of exosomes from trabecular meshwork cells. J Proteomics 74 796-804 PubMed GONUTS page
↑ Matsson, H et al. (2008) Alpha-cardiac actin mutations produce atrial septal defects. Hum. Mol. Genet. 17 256-65 PubMed GONUTS page
↑ Monserrat, L et al. (2007) Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur. Heart J. 28 1953-61 PubMed GONUTS page
↑ Olson, TM et al. (1998) Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280 750-2 PubMed GONUTS page
↑ ^13.0 ^13.1 ^13.2 ^13.3 ^13.4 ^13.5 Bookwalter, CS & Trybus, KM (2006) Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. J. Biol. Chem. 281 16777-84 PubMed GONUTS page
↑ Ilkovski, B et al. (2005) Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul. Disord. 15 829-35 PubMed GONUTS page
↑ Yates, SP et al. (2007) Overexpression of cardiac actin with baculovirus is promoter dependent. Arch. Biochem. Biophys. 466 58-65 PubMed GONUTS page

[PMID:20962418-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Jiang, HK et al. (2010) Reduced ACTC1 expression might play a role in the onset of congenital heart disease by inducing cardiomyocyte apoptosis. Circ. J. 74 2410-8 PubMed GONUTS page

[PMID:23533145-2] Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page

[PMID:21423176-3] Kuo, JC et al. (2011) Analysis of the myosin-II-responsive focal adhesion proteome reveals a role for β-Pix in negative regulation of focal adhesion maturation. Nat. Cell Biol. 13 383-93 PubMed GONUTS page

[PMID:19946888-4] Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page

[PMID:22516433-5] Bastos-Amador, P et al. (2012) Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability. J Proteomics 75 3574-84 PubMed GONUTS page

[PMID:23580065-6] Pieragostino, D et al. (2013) Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy. Mol Biosyst 9 1108-16 PubMed GONUTS page

[PMID:22664934-7] Böhm, D et al. (2012) Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. Oncol. Rep. 28 429-38 PubMed GONUTS page

[PMID:19799913-8] 8.0 ^8.1 ^8.2 Debold, EP et al. (2010) Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. J. Mol. Cell. Cardiol. 48 286-92 PubMed GONUTS page

[PMID:21362503-9] Stamer, WD et al. (2011) Protein profile of exosomes from trabecular meshwork cells. J Proteomics 74 796-804 PubMed GONUTS page

[PMID:17947298-10] Matsson, H et al. (2008) Alpha-cardiac actin mutations produce atrial septal defects. Hum. Mol. Genet. 17 256-65 PubMed GONUTS page

[PMID:17611253-11] Monserrat, L et al. (2007) Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur. Heart J. 28 1953-61 PubMed GONUTS page

[PMID:9563954-12] Olson, TM et al. (1998) Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280 750-2 PubMed GONUTS page

[PMID:16611632-13] 13.0 ^13.1 ^13.2 ^13.3 ^13.4 ^13.5 Bookwalter, CS & Trybus, KM (2006) Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. J. Biol. Chem. 281 16777-84 PubMed GONUTS page

[PMID:16288873-14] Ilkovski, B et al. (2005) Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul. Disord. 15 829-35 PubMed GONUTS page

[PMID:17765196-15] Yates, SP et al. (2007) Overexpression of cardiac actin with baculovirus is promoter dependent. Arch. Biochem. Biophys. 466 58-65 PubMed GONUTS page

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HUMAN:ACTC

Contents

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Notes

References

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